A21T (p.Ala21Thr) variant of ERCC5 (P28715)
A21T (p.Ala21Thr) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A21T (p.Ala21Thr) variant details
- p.Ala21Thr
- cosmic curated COSV57281
- gnomAD rs1881957980
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- CADD 7.87
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available